Tuin, A.J. (Aartje Jorien) (2014) Evaluation of the diagnosis Goldenhar syndrome and the associations of different craniofacial features. thesis, Medicine.
![[img]](https://umcg.studenttheses.ub.rug.nl/style/images/fileicons/text.png) |
Text
TuinJ.pdf Restricted to Registered users only Download (654kB) |
Abstract
Background: Craniofacial microsomia (CFM) is a general term to describe a broad spectrum of congenital craniofacial malformations. Goldenhar syndrome is a disorder characterized by the typical features CFM with additional epibulbar dermoids and vertebral anomalies. This study aims to examine the objective differences between Goldenhar syndrome and CFM. Moreover, this study aims to examine the associations between the different affected structures of the face in the total population of this broad spectrum disorder. Methods: A retrospective chart review was performed on all patients who presented with a diagnosis of CFM or Goldenhar syndrome to the Children’s Hospital of Philadelphia from January 1990 to December 2012. Demographic, diagnosis, OMENS+ classification and accompanying diagnoses were collected. Radiografic data were requested, transformed into 3D images and revised by craniofacial surgeons. For subgroup analysis, Group A consisted of patients subjectively diagnosed with Goldenhar syndrome per clinical records. Group B was comprised of patients who were objectively determined to have epibulbar dermoids and/or vertebral anomalies. Group C included only those patients with epibulbar dermoids and vertebral anomalies. The cohorts were compared with respect to associated medical abnormalities, birth history, and severity of CFM features. For analysis of associations of different facial structures, the OMENS+ classification all affected facial halves of all included patients were used. Results: 138 patients met inclusion criteria. In the study population, 17% of patients had epibulbar dermoids while 34% had vertebral anomalies in addition to CFM features. Group A (n=44, 32%) had more severe CFM features, including a higher percentage of bilaterally affected patients (p=0.001), more severe mandibular deformity (p=<0.001), more severe soft tissue deformity (p=0.010) and a higher incidence of macrostomia (p=0.003). Group B (n=60, 43%) had a more severe soft tissue deformity (p=0.026) and an increased incidence of tracheostomy (p=0.031). Only 10 patients (7%) were included in Group C, having both epibulbar dermoids and vertebral anomalies. No significant differences were found in this cohort. Among the total population, 129 affected hemi faces were analyzed. Associations were all significantly interrelated (p=0.000-0.016) between the degree of orbital, mandibular, soft tissue deformities and the presence of macrostomia. Moreover, the severity of ear deformity and facial nerve involvement were also significantly correlated (p = 0.006). Between these two groupings there was a significant correlation between soft tissue deficiency and nerve involvement (p=0.002). Conclusions: The diagnostic criteria of Goldenhar syndrome remain unclear, thereby making clinical use of the term “Goldenhar” inconsequential. Goldenhar syndrome occurs objectively in 7% of patients treated for CFM, but it is over diagnosed subjectively. This is likely a result of bias toward using a Goldenhar syndrome diagnosis in those patients who show more severe CFM features. In CFM in general this analysis demonstrates that the association between structures using the OMENS+ classification may be caused by their embryologic origin.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Schepers, R.H. MD |
| Supervisor name: | Bartlett, S.B. MD and Children’s Hospital of Philadelphia and Tahiri, Y. MD and Children’s Hospital of Philadelphia |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:51 |
| Last Modified: | 25 Jun 2020 10:51 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/1181 |
Actions (login required)
 |
View Item |